rs7834765

Variant names:

• chr8-121263666-G-T
• rs7834765

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.319 in 151,726 control chromosomes in the GnomAD database, including 8,507 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.32 (8507 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.924

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.529 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.319 AC: 48349 AN: 151608 Hom.: 8489 Cov.: 31

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.426

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.412

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.233

Gnomad OTH AF: 0.310

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.319 AC: 48422 AN: 151726 Hom.: 8507 Cov.: 31 AF XY: 0.326 AC XY: 24177 AN XY: 74124

Gnomad4 AFR AF: 0.395

Gnomad4 AMR AF: 0.427

Gnomad4 ASJ AF: 0.250

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.410

Gnomad4 FIN AF: 0.308

Gnomad4 NFE AF: 0.233

Gnomad4 OTH AF: 0.314

Alfa AF: 0.291 Hom.: 925

Bravo AF: 0.329

Asia WGS AF: 0.477 AC: 1655 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.18
DANN	Benign	0.31

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7834765; hg19: chr8-122275906;